BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

223 related articles for article (PubMed ID: 32887222)

  • 1. Identification of a Novel Variant in
    Barbosa-Gouveia S; González-Vioque E; Hermida Á; Suarez MU; Martínez-González MJ; Borges F; Wintjes L; Kappen A; Rodenburg R; Couce ML
    Genes (Basel); 2020 Sep; 11(9):. PubMed ID: 32887222
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).
    Güngör O; Özkaya AK; Şahin Y; Güngör G; Dilber C; Aydın K
    Brain Dev; 2016 Oct; 38(9):857-61. PubMed ID: 27117034
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
    Ni M; Black LF; Pan C; Vu H; Pei J; Ko B; Cai L; Solmonson A; Yang C; Nugent KM; Grishin NV; Xing C; Roeder E; DeBerardinis RJ
    J Inherit Metab Dis; 2021 Jul; 44(4):949-960. PubMed ID: 33855712
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
    Steenweg ME; Ghezzi D; Haack T; Abbink TE; Martinelli D; van Berkel CG; Bley A; Diogo L; Grillo E; Te Water Naudé J; Strom TM; Bertini E; Prokisch H; van der Knaap MS; Zeviani M
    Brain; 2012 May; 135(Pt 5):1387-94. PubMed ID: 22492562
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate.
    Sawada D; Naito S; Aoyama H; Shiohama T; Ichikawa T; Imagawa E; Miyake N; Matsumoto N; Fujii K
    Brain Dev; 2021 Aug; 43(7):798-803. PubMed ID: 33962821
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.
    Kevelam SH; Klouwer FC; Fock JM; Salomons GS; Bugiani M; van der Knaap MS
    Neuropediatrics; 2016 Jan; 47(1):64-7. PubMed ID: 26619324
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.
    Şahin S; Cansu A; Kalay E; Dinçer T; Kul S; Çakır İM; Kamaşak T; Budak GY
    J Neurol Sci; 2016 Jun; 365():54-8. PubMed ID: 27206875
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.
    Taskin BD; Karalok ZS; Gurkas E; Aydin K; Aydogmus U; Ceylaner S; Karaer K; Yilmaz C; Pearl PL
    J Child Neurol; 2016 Jun; 31(7):938-41. PubMed ID: 26893310
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
    Sellars EA; Balmakund T; Bosanko K; Nichols BL; Kahler SG; Zarate YA
    Neuropediatrics; 2017 Apr; 48(2):108-110. PubMed ID: 27875839
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.
    Oliveira R; Sommerville EW; Thompson K; Nunes J; Pyle A; Grazina M; Chinnery PF; Diogo L; Garcia P; Taylor RW
    JIMD Rep; 2017; 33():61-68. PubMed ID: 27571996
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.
    Fine AS; Nemeth CL; Kaufman ML; Fatemi A
    J Neurodev Disord; 2019 Dec; 11(1):29. PubMed ID: 31839000
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement".
    Prasun P; Mintz C; Cork E; Naidich TP; Webb BD
    J Neurol Sci; 2019 Nov; 406():116448. PubMed ID: 31520968
    [No Abstract]   [Full Text] [Related]  

  • 13. EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
    Danhauser K; Haack TB; Alhaddad B; Melcher M; Seibt A; Strom TM; Meitinger T; Klee D; Mayatepek E; Prokisch H; Distelmaier F
    Metab Brain Dis; 2016 Jun; 31(3):717-21. PubMed ID: 26780086
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
    Almalki A; Alston CL; Parker A; Simonic I; Mehta SG; He L; Reza M; Oliveira JM; Lightowlers RN; McFarland R; Taylor RW; Chrzanowska-Lightowlers ZM
    Biochim Biophys Acta; 2014 Jan; 1842(1):56-64. PubMed ID: 24161539
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
    Biancheri R; Lamantea E; Severino M; Diodato D; Pedemonte M; Cassandrini D; Ploederl A; Trucco F; Fiorillo C; Minetti C; Santorelli FM; Zeviani M; Bruno C
    JIMD Rep; 2015; 23():85-9. PubMed ID: 25854774
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functionally pathogenic
    McNeill N; Nasca A; Reyes A; Lemoine B; Cantarel B; Vanderver A; Schiffmann R; Ghezzi D
    Neurol Genet; 2017 Aug; 3(4):e162. PubMed ID: 28748214
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
    Talim B; Pyle A; Griffin H; Topaloglu H; Tokatli A; Keogh MJ; Santibanez-Koref M; Chinnery PF; Horvath R
    Brain; 2013 Feb; 136(Pt 2):e228. PubMed ID: 23008233
    [No Abstract]   [Full Text] [Related]  

  • 18. Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
    Maffezzini C; Laine I; Dallabona C; Clemente P; Calvo-Garrido J; Wibom R; Naess K; Barbaro M; Falk A; Donnini C; Freyer C; Wredenberg A; Wedell A
    Mol Genet Genomic Med; 2019 Jun; 7(6):e654. PubMed ID: 30920170
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
    Theisen BE; Rumyantseva A; Cohen JS; Alcaraz WA; Shinde DN; Tang S; Srivastava S; Pevsner J; Trifunovic A; Fatemi A
    Am J Med Genet A; 2017 Sep; 173(9):2505-2510. PubMed ID: 28650581
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
    Roux CJ; Barcia G; Schiff M; Sissler M; Levy R; Dangouloff-Ros V; Desguerre I; Edvardson S; Elpeleg O; Rötig A; Munnich A; Boddaert N
    Mol Genet Metab; 2021 Jun; 133(2):222-229. PubMed ID: 33972171
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.